6-26107736-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005323.4(H1-6):āc.358A>Gā(p.Thr120Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,614,210 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005323.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
H1-6 | NM_005323.4 | c.358A>G | p.Thr120Ala | missense_variant | 1/1 | ENST00000338379.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
H1-6 | ENST00000338379.6 | c.358A>G | p.Thr120Ala | missense_variant | 1/1 | NM_005323.4 | P1 | ||
H2BC4 | ENST00000707188.1 | c.*9+15779A>G | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152202Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251106Hom.: 0 AF XY: 0.0000811 AC XY: 11AN XY: 135708
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461890Hom.: 0 Cov.: 37 AF XY: 0.0000275 AC XY: 20AN XY: 727246
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152320Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74488
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at